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Detailed information for vg0809643286:

Variant ID: vg0809643286 (JBrowse)Variation Type: SNP
Chromosome: chr08Position: 9643286
Reference Allele: TAlternative Allele: C
Primary Allele: CSecondary Allele: T

Inferred Ancestral Allele : T (evidence from allele frequency in Oryza rufipogon: T: 0.65, C: 0.35, others allele: 0.00, population size: 46. )

Flanking Sequence (100 bp) in Reference Genome:


TATAAAAAAATTAAAAAGATAAGTCACGTATAAAGTGTTAACCATGATTTATCATCTAACAACAATGAAAGTACTAATTATAAAAAAAATTCATATAAGA[T/C]
GGACAGTCAAACGTTGGCACGGAAACCCAGAGTTTGCCTTTTTTTTGGGACGGAGAGAGTAAGTCTTAAATTATCTGCCCTCCCAAGCTTGCTTTCCATG

Reverse complement sequence

CATGGAAAGCAAGCTTGGGAGGGCAGATAATTTAAGACTTACTCTCTCCGTCCCAAAAAAAAGGCAAACTCTGGGTTTCCGTGCCAACGTTTGACTGTCC[A/G]
TCTTATATGAATTTTTTTTATAATTAGTACTTTCATTGTTGTTAGATGATAAATCATGGTTAACACTTTATACGTGACTTATCTTTTTAATTTTTTTATA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 32.60% 13.10% 0.28% 54.06% NA
All Indica  2759 24.70% 4.00% 0.33% 71.04% NA
All Japonica  1512 45.00% 32.50% 0.20% 22.29% NA
Aus  269 54.30% 0.40% 0.00% 45.35% NA
Indica I  595 4.90% 12.80% 0.17% 82.18% NA
Indica II  465 37.40% 1.90% 1.08% 59.57% NA
Indica III  913 28.50% 0.20% 0.11% 71.19% NA
Indica Intermediate  786 27.70% 2.80% 0.25% 69.21% NA
Temperate Japonica  767 31.00% 57.20% 0.13% 11.60% NA
Tropical Japonica  504 59.70% 1.20% 0.20% 38.89% NA
Japonica Intermediate  241 58.90% 19.10% 0.41% 21.58% NA
VI/Aromatic  96 5.20% 0.00% 0.00% 94.79% NA
Intermediate  90 30.00% 18.90% 1.11% 50.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0809643286 T -> C LOC_Os08g15860.1 downstream_gene_variant ; 2897.0bp to feature; MODIFIER silent_mutation Average:72.308; most accessible tissue: Minghui63 root, score: 97.915 N N N N
vg0809643286 T -> C LOC_Os08g15840-LOC_Os08g15860 intergenic_region ; MODIFIER silent_mutation Average:72.308; most accessible tissue: Minghui63 root, score: 97.915 N N N N
vg0809643286 T -> DEL N N silent_mutation Average:72.308; most accessible tissue: Minghui63 root, score: 97.915 N N N N

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0809643286 T C 0.01 0.01 0.0 0.02 0.01 0.01

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0809643286 NA 4.36E-06 mr1002 Jap_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0809643286 2.03E-06 4.20E-07 mr1137 Ind_All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0809643286 NA 8.35E-07 mr1441 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0809643286 NA 6.78E-08 mr1124_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0809643286 NA 2.10E-07 mr1149_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251